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19 Possible Causes for Abnormal Corticomedullary Differentiation, Retinal Degeneration, Varicella

  • Ataxia Telangiectasia

    Uncomplicated varicella infection occurred in 44% of patients; 2 patients had more than one clinical episode.[] Björklund, Markus Ringnér, Thomas Perlmann & Johan Holmberg Nature Communications (2018) DZNep inhibits H3K27me3 deposition and delays retinal degeneration in the rd1 mice[] Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[]

  • Primary Optic Atrophy

    Varicella Zoster Virus (chicken pox) Noninfectious Optic Neuritis -Sarcoidosis -Autoimmune diseases 1. Idiopathic 2. Infectious - self-limiting 3.[] Degeneration of retinal ganglion cells and their axons; bilateral subacute optic neuropathy, typically with simultaneous or rapidly sequential central or cecocentral visual[] Radiographs reveal diffuse bone sclerosis, loss of the normal corticomedullary differentiation, dense homogeneous appearance due to abnormally increased bone density with[]

  • Waters-West Syndrome

    109 Congenital Immunodeficiencies 848 110 Inflammatory Mediators in Neonatal Asphyxia and Infection 853 111 Neonatal Malignancies 858 Cytomegalovirus Herpes Simplex and Varicella[] Familial, with External and Middle Ear Abnormalities OMIM:607330 Lathosterolosis OMIM:150500 Lattice Degeneration of Retina Leading to Retinal Detachment OMIM:245800 Laurence-Moon[] […] atrophy Adrenal insufficiency Absence of renal corticomedullary differentiation Hemolytic anemia Ptosis Lethargy Pachygyria Heterotopia Decreased liver function Aspiration[]

  • CAMFAK Syndrome

    Intrauterine infection/maternal infection embryopathy Rubella, cytomegalovirus, varicella-herpes zoster, herpes simplex, toxoplasmosis, syphilis, Epstein–Barr virus, measles[] Cockayne described a syndrome characterized by cachectic dwarfism, deafness, and pigmentary retinal degeneration with a characteristic “salt and pepper” appearance of the[] […] renal corticomedullary differentiation High palate Camptodactyly Dolichocephaly Arachnodactyly High, narrow palate Renal hypoplasia Joint contracture of the hand Trophic[]

  • Hyperalaninemia

    ., c erebellar abscess, Coxsackie virus, Diptheria, Mumps, Polio, Typhus, Echovirus, Pertusis, Rubeola, Varicella, Infectious Mononucleosis, Mycoplasma, Infectious polyneuropathy[] degeneration-trichomegaly syndrome; septo-optic dysplasia; (iv) craniofacial disorders: acrocephaly-cleft lip-radial aplasia syndrome; acrocephalosyndactyly;type 1 (Apert[] […] renal corticomedullary differentiation Cryptorchidism Coma Obesity X-linked recessive inheritance Hypogonadism Neonatal hypotonia Deeply set eye Respiratory distress Peripheral[]

  • Hematopoietic Stem Cell Transplantation

    Treatment of macular degeneration using embryonic stem cell-derived retinal pigment epithelium: preliminary results in Asian patients.[] […] analyzed, a blood sample was collected and tested by ELISA for diphtheria, Haemophilus influenzae type b (Hib), hepatitis A, hepatitis B, tetanus, measles, rubella, and varicella[] Normal corticomedullary differentiation was evident in five (P   0.06) and 12 (P   0.005) patients at 6 and 12 months, respectively.[]

  • Mulibrey Nanism Syndrome

    Sensorineural hearing loss and pigmentary retinal degeneration is invariably present.[] Complications included pre-eclampsia (three cases), anti-Rhesus immunisation (a pair of siblings), gestational diabetes (one), and varicella zoster infection (one).[] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[]

  • Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome

    […] virus antenatal infection Varicella Zoster Variegate porphyria Vas deferens, congenital bilateral aplasia of Vascular disruption sequence Vascular helix of umbilical cord[] Inherited deficiencies of blood lipoproteins also may result in peripheral neuropathy, retinal degeneration, and other motor and skeletal deformities.[] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[]

  • Hypertrichotic Osteochondrodysplasia

    […] pulmonary lymphangiectasia 100 cases 99015 Triple A syndrome 100 cases833 Encephalopathy due to sulfite oxidase deficiency 100 cases 869 Silent sinus syndrome 100 cases291 Fetal varicella[] […] early-onset osteoarthritis (OD) [MIM: 165800 ] ACAT1 P24752 non-pleiotropic 3-ketothiolase deficiency (3KTD) [MIM: 203750 ] ACO2 Q99798 non-pleiotropic Infantile cerebellar-retinal[] […] of cardiovascular system morphology Abnormality of the dentition Short nose Blindness Dysplastic tricuspid valve Abnormality of the umbilicus Reduced renal corticomedullary[]

  • Raine Syndrome

    PART II - WHAT WAS DONE While in hospital, the child suffered a varicella infection ruling out treatment with all of the drugs listed above, including the chemotherapy drugs[] […] pigmentosa-deafness syndrome Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features Exstrophy of the bladder Familial[] Corticomedullary differentiation was maintained and no periosteal reaction was noted.[]

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